@CSVS_es

Very happy to announce the publication of CSVS @NAR_Research. A truly collaborative effort to know the Spanish genetic variation @CIBERER @navarrabiomed @FProgresoysalud @ClinicalBioinfo @ibis_sevilla @saludand @NoInvisibles @INB_Official @eSaludInvestiga academic.oup.com/nar/advance-ar…

Crean un atlas genético que predice el riesgo de patologías comunes europasur.es/salud/investig… un trabajo colectivo de @FProgresoysalud @ibis_sevilla @CIBERER @navarrabiomed y muchos más investigadores @AEGHgenetica @INB_Official @SEFF_Oficial @Farmaindustria

PGS adjusted to the Spanish population are available at the @CSVS_es csvs.clinbioinfosspa.es along with more useful information on the genomic variability of the Spanish population @AEGHgenetica @PharmaGenetics @Farmaindustria @Orphanet @FEDER_ONG @SEFF_Oficial

The PRS distributions are available at the @CSVS_es server csvs.clinbioinfosspa.es along with many more details on the genetic variability of the Spanish population

Very happy to have our paper "The Spanish Polygenic Score reference distribution: a resource for personalized medicine" a collaborative work with many colleages from the @CIBERER and others nature.com/articles/s4143… @FProgresoysalud @ibis_sevilla @INB_Official @AEGHgenetica

A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly genomemedicine.biomedcentral.com/articles/10.11… New discoveries with #CSVS @FProgresoysalud @ibis_sevilla @CIBERER @INB_Official @FEDER_ONG @NoInvisibles @Orphanet @RareGenomics @RarasReales

Felices del reconocimiento a todo el equipo! @CSVS_es sigue creciendo!

Creación del primer repositorio del epigenoma de referencia de población española en el contexto CIBER #CongresoCIBER Premio en sesión Nuevas tecnologías y metodologías ómicas aplicadas al diagnóstico @FProgresoysalud @ibis_sevilla @CIBERER csvs.clinbioinfosspa.es @INB_Official

Destacando la importancia de conocer la variabilidad local esoañola también en la farmacogenética. Dentro de la IV jornada de la Sociedad Española de Farmacogenética y Farmacogenomica. @SEFF_Oficial  @CSVS_es @FProgresoysalud @ClinicalBioinfo

The importance of the local genetic variation in the "Status of the implementation of pharmacogenetics in clinical practice in Spain: from regional to national initiatives" #CSVS degruyter.com/document/doi/1… @FProgresoysalud @CIBERER @ibis_sevilla @AEGHgenetica @Farmaindustria

#CSVS used to Understand the genetic and clinical profile of Parkinson disease in Spain onlinelibrary.wiley.com/doi/10.1111/en… in @EurJournalNeuro @AEGHgenetica @ParkinsonDotOrg @CIBERER @ibis_sevilla

La importancia de la variación genética de la población local en la medicina personalizada. Reflexiones sobre la improtancia del recurso #CSVS @ciberer en la revista de la @SEISeSalud seis.es/is-161/ @SaludISCIII @FProgresoysalud @ibis_sevilla @INB_Official

#CSVS used for the Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis jnnp.bmj.com/content/early/… @FProgresoysalud @CIBERER @AEGHgenetica @FEDER_ONG @NoInvisibles

#CSVS, la base de datos de variación genética de la población española, usada por Rosario Carmona @RCarmoMu en un interesante estudio de búsqueda de hallazgos secundarios de riesgos de enfermedades o #farmacogeneticos @ibis @CIBERER @FProgresoysalud @AEGHgenetica

@RCarmoMu abre la primera sesión de las #JABI24 hablando de hallazgos secundarios en la @CSVS_es, el repositorio de variación genética de la población española @CIBERER @FProgresoysalud @ibis_sevilla @INB_Official @AEGHgenetica @FundacionPTS @jabi_conference

Happy to participate in this amazing contribution to the characterization of the local genetic vaiability of the Spanish population mdpi.com/2073-4425/15/5… More tools for #raredisease diagnosis and research. @FProgresoysalud @ibis_sevilla @CIBERER @INB_Official @AEGHgenetica

A new paper with the Characterization of the Common Genetic Variation in the Spanish Population of Navarre mdpi.com/2073-4425/15/5… that cites #CSVS @ClinicalBioinfo @FProgresoysalud @INB_Official @CIBERER

@RCarmoMu (@ClinicalBioinfo, @FProgresoysalud) introduces IRPVS, the repository of genetic variation of Spanish roma population, at the Annual @CIBERER meeting @ibis_sevilla @INB_Official @FEDER_ONG @NoInvisibles @RarasReales @eerr_es @singulaREs_eer @AEGHgenetica

Proud to be part of this initiative "Characterization of the common genetic variation in the Spanish population of Navarre" medrxiv.org/content/10.110… @FProgresoysalud @ibis_sevilla @CIBERER @CSVS_es @INB_Official @navarrabiomed @AEGHgenetica @FEDER_ONG

#CSVS / #SPACNACS cited in "Public platform with 39,472 exome control samples enables association studies without genotype sharing" nature.com/articles/s4158… @NatureGenet @CIBERER @INB_Official @FProgresoysalud @ibis_sevilla @Share4Rare @AEGHgenetica @RareGenomics @Orphanet